Stickler Flashcards

1
Q

¿Qué gen está afectado en stickler tipo 1?

A

*COL2A1

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2
Q

¿Qué gen está afectado en stickler tipo 2?

A

*COL11A1

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3
Q

¿Qué gen está afectado en stickler tipo 3?

A

*COL11A2

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4
Q

4 afectaciones oftalmologicas

A
  • miopia
  • estrabismo
  • hipertelorismo
  • astigmatismo
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5
Q

3 fenotipos en este Sx

A
  • escoliosis
  • hipertelorismo
  • cara plana
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